{"Name":"Ellis-van Creveld syndrome","DiseaseID__c":"GARD:0001301","id":1301,"encodedName":"ellis-van-creveld-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ellis-van Creveld syndrome","Xref_IDs__c":"62501005; C0013903; C84684; D004613; DOID:12714; MEDGEN:8584; MONDO:0009162; NBK596643; OMIM:225500; ORPHA:289; Q77.6","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009162","Disease_Description__c":"A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.","GARD_Name__c":"Ellis-van Creveld syndrome","GARD_Synonym__c":"chondroectodermal dysplasia; ellis van creveld syndrome; evc; evc - ellis-van creveld syndrome; evc-related ellis-van creveld syndrome; evc2-related ellis-van creveld syndrome; mesodermic dysplasia; mesoectodermal dysplasia","Curated_Disease_Description_Source__c":"GARD:0001301","Curated_Disease_Description__c":"Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism).  People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs.  Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems. The features of Ellis-van Creveld syndrome overlap with those of another, milder condition called Weyers acrofacial dysostosis. Like Ellis-van Creveld syndrome, Weyers acrofacial dysostosis involves tooth and nail abnormalities, although affected individuals have less pronounced short stature and typically do not have heart defects. The two conditions are caused by mutations in the same genes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:289","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009162","ORPHANET_ID__c":"ORPHA:289","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ellis-van creveld","Spanish_Description_Source__c":"ORPHA:289","Spanish_Description__c":"Es una displasia condral y ectodérmica poco frecuente caracterizada por costillas cortas, polidactilia, retraso del crecimiento y defectos ectodérmicos y cardíacos.","Spanish_Disease_Name__c":"síndrome de ellis-van creveld","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism).  People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs.  Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems. The features of Ellis-van Creveld syndrome overlap with those of another, milder condition called Weyers acrofacial dysostosis. Like Ellis-van Creveld syndrome, Weyers acrofacial dysostosis involves tooth and nail abnormalities, although affected individuals have less pronounced short stature and typically do not have heart defects. The two conditions are caused by mutations in the same genes.","Curated_Disease_Description_Source__c":"GARD:0001301","GARD_Synonym__c":"chondroectodermal dysplasia; ellis van creveld syndrome; evc; evc - ellis-van creveld syndrome; evc-related ellis-van creveld syndrome; evc2-related ellis-van creveld syndrome; mesodermic dysplasia; mesoectodermal dysplasia","Name":"Ellis-van Creveld syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Canadian Ectodermal Dysplasia Syndromes Association","Website__c":"https://ectodermaldysplasia.ca/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:289"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:289"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0013903"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001301","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK596643","Source__c":"Gene Review","Xref__c":"NBK596643"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84684","Source__c":"C0013903; MONDO:0009162","Xref__c":"C84684"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=62501005","Source__c":"C0013903; MONDO:0009162","Xref__c":"62501005"},{"URL__c":"https://www.orpha.net/en/disease/detail/289","Source__c":"C0013903; MONDO:0009162; ORPHA:289","Xref__c":"ORPHA:289"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12714","Source__c":"MONDO:0009162","Xref__c":"DOID:12714"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0013903","Source__c":"C0013903","Xref__c":"C0013903"},{"URL__c":"https://www.omim.org/entry/225500","Source__c":"C0013903; MONDO:0009162; ORPHA:289","Xref__c":"OMIM:225500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C004613","Source__c":"C0013903; MONDO:0009162","Xref__c":"D004613"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8584","Source__c":"C0013903","Xref__c":"MEDGEN:8584"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009162","Source__c":"GARD:0001301","Xref__c":"MONDO:0009162"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q77.6","Source__c":"MONDO:0009162","Xref__c":"Q77.6"},{"URL__c":"https://medlineplus.gov/genetics/condition/ellis-van-creveld-syndrome","Source__c":"GARD:0001301","Xref__c":"https://medlineplus.gov/genetics/condition/ellis-van-creveld-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EVC2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/evc2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EVC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/evc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002644","HPO_Synonym__c":"Abnormal shape of pelvic girdle bone; Abnormality of pelvic girdle bone morphology","HPO_Name__c":"Abnormal pelvic girdle bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001161","HPO_Synonym__c":"Extra finger; Finger polydactyly; Polydactyly of the hand; Supernumerary finger","HPO_Name__c":"Hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced inferior to superior extent of the thorax.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010306","HPO_Synonym__c":"Shorter than typical length between neck and abdomen","HPO_Name__c":"Short thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the form or number of cells in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005561","HPO_Synonym__c":"Abnormality of bone marrow cell morphology; Anomaly of the bone marrow cells","HPO_Name__c":"Abnormal bone marrow cell morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A defect of the atrioventricular septum of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006695","HPO_Synonym__c":"Atrioventricular septal defect; Endocardial cushion defect","HPO_Name__c":"Atrioventricular canal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The distention of the ureter with urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000072","HPO_Synonym__c":"Dilated ureter; Megaureter; Swelling of ureter; Ureteral dilatation; Wide ureter","HPO_Name__c":"Hydroureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of a cardiac valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001654","HPO_Synonym__c":"Abnormality of the heart valves; Valvular abnormality","HPO_Name__c":"Abnormal heart valve morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001800","HPO_Synonym__c":"Underdeveloped toenails","HPO_Name__c":"Hypoplastic toenails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of polydactyly characterized by the presence of a supernumerary toe or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001829","HPO_Synonym__c":"Duplication of bones of the toes; Polydactyly of feet; Polydactyly of the foot","HPO_Name__c":"Foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \\\"mirror reflection\\\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001651","HPO_Synonym__c":"Heart tip and four chambers point towards right side of body; Thoracic situs inversus","HPO_Name__c":"Dextrocardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal positioning in which the elbows are turned out.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002967","HPO_Synonym__c":"Outward turned elbows","HPO_Name__c":"Cubitus valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001696","HPO_Synonym__c":"All organs on wrong side of body; situs oppositus; situs transversus","HPO_Name__c":"Situs inversus totalis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the female internal genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000008","HPO_Synonym__c":"Abnormality of female internal genitalia","HPO_Name__c":"Abnormal morphology of female internal genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000774","HPO_Synonym__c":"Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter","HPO_Name__c":"Narrow chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the oral mucosa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011830","HPO_Synonym__c":"Abnormality of lining of mouth; Abnormality of mucosa of mouth; Abnormality of oral mucosa; Abnormality of oral mucous membrane","HPO_Name__c":"Abnormal oral mucosa morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008678","HPO_Synonym__c":"Absent/small kidney; Absent/underdeveloped kidney; Renal agenesis/hypoplasia; Renal aplasia/hypoplasia","HPO_Name__c":"Renal hypoplasia/aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000039","HPO_Name__c":"Epispadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000684","HPO_Synonym__c":"Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption","HPO_Name__c":"Delayed eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of short-limbed dwarfism that is manifest beginning in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008921","HPO_Synonym__c":"Dwarfism, neonatal short-limbed; Neonatal short-limbed dwarfism; Short limb dwarfism recognizable at birth; Short-limb dwarfism identifiable at birth; Short-limb dwarfism identifiable neonatally; Short-limbed dwarfism identifiable at birth","HPO_Name__c":"Neonatal short-limb short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002164","HPO_Synonym__c":"Atypical nail growth; Dysplastic nails; Onychodysplasia","HPO_Name__c":"Nail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001241","HPO_Synonym__c":"Capitate-hamate fusions; Fused capitate and hamate; Fusion of capitate and hamate; Fusion of hamate and capitate","HPO_Name__c":"Capitate-hamate fusion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002488","HPO_Synonym__c":"Acute leukemias","HPO_Name__c":"Acute leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001595","HPO_Synonym__c":"Abnormality of the hair; Hair abnormality","HPO_Name__c":"Abnormal hair morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005048","HPO_Synonym__c":"Fusion of wrist bones","HPO_Name__c":"Synostosis of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002097","HPO_Synonym__c":"Pulmonary emphysema","HPO_Name__c":"Emphysema","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000069","HPO_Synonym__c":"Abnormality of the ureters; Ureter issue; Ureteral anomalies","HPO_Name__c":"Abnormality of the ureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006703","HPO_Synonym__c":"Absent/small lungs; Absent/underdeveloped lungs","HPO_Name__c":"Aplasia/Hypoplasia of the lungs","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal conical morphology of the incisor tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011065","HPO_Synonym__c":"Cone shaped front tooth; Conoid incisor; Peg shaped incisors; Peg-shaped incisors; Peg-shaped tooth; Shark tooth incisor","HPO_Name__c":"Conical incisor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000924","HPO_Synonym__c":"Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies","HPO_Name__c":"Abnormality of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000190","HPO_Synonym__c":"Abnormality of frenum of tongue; Abnormality of lingual frenum; Abnormality of oral frenula; Abnormality of oral frenum","HPO_Name__c":"Abnormal oral frenulum morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000233","HPO_Synonym__c":"Decreased volume of lip; Decreased volume of lip vermillion; Thin lips; Thin vermillion","HPO_Name__c":"Thin vermilion border","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal amount of hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011362","HPO_Synonym__c":"Abnormal hair quantity; Abnormality of hair density","HPO_Name__c":"Abnormal hair quantity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Nephrology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Pulmonology","Nephrology","Dermatology","Orthopedics","Pediatrics"],"Account":["Nephrology","Dermatology","Ectodermal dysplasia"]},"synonyms":["chondroectodermal dysplasia"," ellis van creveld syndrome"," evc"," evc - ellis-van creveld syndrome"," evc-related ellis-van creveld syndrome"," evc2-related ellis-van creveld syndrome"," mesodermic dysplasia"," mesoectodermal dysplasia"]}